|
DOID:0112124 - X-linked retinitis pigmentosa and sinorespiratory infections
Disease Ontology Definition:A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.
Synonyms: primary ciliary dyskinesia-retinitis pigmentosa syndrome
Xenbase Genes
:
rpgr
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a),
X-linked monogenic disease (is_a)